Canonical Allele Identifier: CA365621624

Gene: LAMA2

Linked Data

• MyVariant Identifiers: chr6:g.129786335A>C (hg19) ; chr6:g.129465190A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129465190A>C , CM000668.2:g.129465190A>C	GRCh38
NC_000006.11:g.129786335A>C , CM000668.1:g.129786335A>C	GRCh37
NC_000006.10:g.129828028A>C	NCBI36
NG_008678.1:g.587050A>C , LRG_409:g.587050A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.7201A>C	ENSP00000481744.2:p.Ser2401Arg
ENST00000618192.5:c.7465A>C	ENSP00000480802.2:p.Ser2489Arg
ENST00000684985.1:n.832A>C
ENST00000688150.1:n.540A>C
ENST00000421865.3:c.7201A>C MANE Select	ENSP00000400365.2:p.Ser2401Arg
ENST00000421865.2:c.7201A>C	ENSP00000400365.2:p.Ser2401Arg
ENST00000617695.4:c.7201A>C	ENSP00000481744.1:p.Ser2401Arg
ENST00000618192.4:c.7198A>C	ENSP00000480802.1:p.Ser2400Arg
NM_000426.3:c.7201A>C , LRG_409t1:c.7201A>C	NP_000417.2:p.Ser2401Arg
NM_001079823.1:c.7201A>C	NP_001073291.1:p.Ser2401Arg
XM_005266981.2:c.7465A>C	XP_005267038.1:p.Ser2489Arg
XM_005266982.2:c.7465A>C	XP_005267039.1:p.Ser2489Arg
XM_011535820.1:c.7459A>C	XP_011534122.1:p.Ser2487Arg
XM_005266981.3:c.7465A>C	XP_005267038.1:p.Ser2489Arg
XM_005266982.3:c.7465A>C	XP_005267039.1:p.Ser2489Arg
XM_011535820.2:c.7459A>C	XP_011534122.1:p.Ser2487Arg
XM_017010851.2:c.7471A>C	XP_016866340.1:p.Ser2491Arg
XM_017010852.1:c.5596A>C	XP_016866341.1:p.Ser1866Arg
NM_000426.4:c.7201A>C MANE Select	NP_000417.3:p.Ser2401Arg
NM_001079823.2:c.7201A>C	NP_001073291.2:p.Ser2401Arg